Beckwith-Wiedemann Syndrome (BWS) Methylation-Specific MLPA (GREENWOOD GENETICS)

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LAB101002: Beckwith-Wiedemann Syndrome (BWS) Methylation-Specific MLPA | DNABWM

GREENWOOD GENETICS LAB: LAVENDER TOP-EDTA (Room Temperature) Min Vol: 3

Adult: 20 mL random urine *Pediatric minimum: 10 mL random urine*

Specimen Requirements: For most amino acids disorders, plasma is the preferred tissue because urine amino acid values are based on creatinine concentration. As the concentration of urine varies greatly, levels can be falsely elevated or lowered. In cases of suspected transport defects, such as cystinuria, urine is preferred. Amino acid analysis may also be performed on cerebral spinal fluid (CSF). For plasma samples, at least 1ml is required. 3 ml of whole blood in a green top, sodium heparin tube can also be sent. Urine samples should be at least 10 ml of a random catch. 24-hour collection is preferred. Transport: Plasma, CSF, or urine must be frozen, preferably on dry ice. Samples must be received within 24 hours by overnight delivery services or courier. Blood should be sent at ambient temperature. Do not freeze whole blood.